Parent U.S. application Ser. No. 07/711,615, which is herein incorporated by reference, describes methods for detecting CMT1A disease in those persons having DNA duplication of a gene locus, such as the locus located on chromosome 17, using as probes, cosmid vectors directed to the VAW409 gene locus. CMT1A characterized by gene duplication is estimated to account for about 80% of all cases of CMT1A disease. The remaining 20% of CMT1A afflicted persons are thought to have another type of abnormality of this gene. In a mouse model of peripheral neuropathy, it has been shown that point mutations of the PMP-22 sequence are associated with Schwann cell defects characterized by severe hypomyelination and continuing Schwann cell proliferation throughout life (Suter et al. 1992). Such defects are also observed seen in human hypertrophic neuropathies, including CMT and Dejerine-Sottas disease, and it is now thought that mutations of the PMP-22 coding region may account for such defects.
In the present application is described the nucleic acid sequence for the specific peripheral myelin protein known as PMP-22. Information derived from this sequence is useful in the manufacture of a reagents useful in the diagnosis and therapy of human hypertrophic neuropathies, and particularlly, CMT type 1A.